C1843164[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 362615	NM_006158.5(NEFL):c.*1806T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362616	NM_006158.5(NEFL):c.*1744T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362619	NM_006158.5(NEFL):c.*1482C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909556	NM_006158.5(NEFL):c.*1464A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909557	NM_006158.5(NEFL):c.*1383C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362620	NM_006158.5(NEFL):c.*1349T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362621	NM_006158.5(NEFL):c.*1344G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362623	NM_006158.5(NEFL):c.*1342A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 910484	NM_006158.5(NEFL):c.*1293A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 911715	NM_006158.5(NEFL):c.*1153T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 911716	NM_006158.5(NEFL):c.*1101G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362630	NM_006158.5(NEFL):c.*878A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362631	NM_006158.5(NEFL):c.*856T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362633	NM_006158.5(NEFL):c.*577T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362635	NM_006158.5(NEFL):c.*486T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 909615	NM_006158.5(NEFL):c.*436T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GLikely benign
Select item 362640	NM_006158.5(NEFL):c.*244A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362642	NM_006158.5(NEFL):c.*171C>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362643	NM_006158.5(NEFL):c.*101A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362644	NM_006158.5(NEFL):c.*82T>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362645	NM_006158.5(NEFL):c.*51A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 911788	NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)	NEFL (P470S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GConflicting classifications of pathogenicity
Select item 215429	NM_006158.5(NEFL):c.1407G>A (p.Glu469=)	NEFL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 66676	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	NEFL (D468N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 362646	NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)	NEFL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 908821	NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)	NEFL (F439I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GConflicting classifications of pathogenicity
Select item 66673	NM_006158.5(NEFL):c.1212C>T (p.Ser404=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 908822	NM_006158.5(NEFL):c.717G>A (p.Gln239=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 909673	NM_006158.5(NEFL):c.564C>G (p.Ala188=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F +1 more	GConflicting classifications of pathogenicity
Select item 909674	NM_006158.5(NEFL):c.558G>A (p.Glu186=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GLikely benign
Select item 909675	NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)	NEFL (E180D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909676	NM_006158.5(NEFL):c.516C>T (p.Arg172=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909677	NM_006158.5(NEFL):c.339G>C (p.Gln113His)	NEFL (Q113H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GConflicting classifications of pathogenicity
Select item 910601	NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)	NEFL (Q113P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GConflicting classifications of pathogenicity
Select item 41236	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	NEFL (N98S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, dominant intermediate G +6 more	GPathogenic/Likely pathogenic
Select item 66686	NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	NEFL (V76A)	Single nucleotide variant (missense variant)	NEFL-related condition +3 more	GBenign/Likely benign
Select item 362647	NM_006158.5(NEFL):c.141G>A (p.Val47=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 66693	NM_006158.5(NEFL):c.45G>A (p.Lys15=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F +1 more	GConflicting classifications of pathogenicity
Select item 362648	NM_006158.5(NEFL):c.-68T>A	NEFL	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 670555	NM_006158.4(NEFL):c.-176C>A	NEFL	Single nucleotide variant	not provided +1 more	GBenign
Select item 910602	NM_006158.4(NEFL):c.-183C>G	NEFL	Single nucleotide variant	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 910603	NM_006158.4(NEFL):c.-248C>G	NEFL	Single nucleotide variant	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 911828	NM_006158.4(NEFL):c.-258C>G	NEFL	Single nucleotide variant	Charcot-Marie-Tooth disease type 1F	GUncertain significance

ClinVar

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Items: 44